Living with Dystonia 24
A rare inherited dystonia that affects the neck, eyelids, jaw, and voice, usually starting from childhood to adulthood.
Understanding Dystonia 24
It causes a mix of neck dystonia with tremor, eyelid spasms (blepharospasm), and dystonia in the jaw and voice box. It slowly gets worse and may spread to other areas. Arm tremor and brief muscle jerks (myoclonus) in the arms or neck have also been reported. Symptoms begin between childhood and adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wry neck (torticollis)
- Eyelid spasms (blepharospasm)
- Muscle tightening in the limbs (limb dystonia)
- Shaky voice (vocal tremor)
- Jaw dystonia (less common)
- Muscle jerks (myoclonus; less common)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ANO3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Dystonia Medical Research Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Dystonia Medical Research Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the ANO3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: ano3 dystonic disorder; cranio-cervical dystonia with laryngeal and upper limb involvement; cranio-cervical dystonia with laryngeal and upper-limb involvement; dystonia type 24; dystonic disorder caused by mutation in ano3; dyt-ano3
Patient organizations
- Dystonia Medical Research FoundationDystonia · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dystonia 24.
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